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CNIH3 cornichon family AMPA receptor auxiliary protein 3 [ Homo sapiens (human) ]

Gene ID: 149111, updated on 2-Nov-2024

Summary

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Official Symbol
CNIH3provided by HGNC
Official Full Name
cornichon family AMPA receptor auxiliary protein 3provided by HGNC
Primary source
HGNC:HGNC:26802
See related
Ensembl:ENSG00000143786 AllianceGenome:HGNC:26802
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CNIH-3
Summary
Predicted to enable channel regulator activity. Involved in regulation of AMPA receptor activity. Predicted to be located in dendritic shaft and postsynaptic membrane. Predicted to be part of AMPA glutamate receptor complex. Predicted to be active in dendrite and glutamatergic synapse. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in brain (RPKM 4.8), testis (RPKM 1.6) and 10 other tissues See more
Orthologs
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Genomic context

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See CNIH3 in Genome Data Viewer
Location:
1q42.12
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (224434640..224740554)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (223623489..223929352)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (224622342..224928256)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:224544931-224545431 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2611 Neighboring gene cornichon family member 4 Neighboring gene WD repeat domain 26 Neighboring gene microRNA 4742 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:224616083-224616672 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:224616673-224617262 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1853 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2612 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:224661692-224661861 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:224667779-224668305 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:224685507-224686036 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:224686037-224686568 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:224687944-224688444 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:224688445-224688945 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:224696756-224697667 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:224703315-224703519 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:224759465-224759964 Neighboring gene aldehyde reductase family 1 member B1 pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:224794759-224795606 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:224810564-224810727 Neighboring gene CNIH3 antisense RNA 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:224825085-224825727 Neighboring gene DNAJB6 pseudogene 6 Neighboring gene NANOG hESC enhancer GRCh37_chr1:224885837-224886338 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:224920728-224921927 Neighboring gene CNIH3 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2615 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2617 Neighboring gene uncharacterized LOC124904523 Neighboring gene long intergenic non-protein coding RNA 2813

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Evidence of CNIH3 involvement in opioid dependence. Nelson EC, et al. Mol Psychiatry, 2016 May. PMID 26239289, Free PMC Article
  2. Upregulation of cornichon transcripts in the dorsolateral prefrontal cortex in schizophrenia. Drummond JB, et al. Neuroreport, 2012 Dec 5. PMID 23103966
  3. Functional comparison of the effects of TARPs and cornichons on AMPA receptor trafficking and gating. Shi Y, et al. Proc Natl Acad Sci U S A, 2010 Sep 14. PMID 20805473, Free PMC Article
  4. Spindle Assembly Checkpoint Inhibition Can Resensitize p53-Null Stem Cells to Cancer Chemotherapy. Liu C, et al. Cancer Res, 2019 May 1. PMID 30862715, Free PMC Article
  5. Systematic identification of pathological lamin A interactors. Dittmer TA, et al. Mol Biol Cell, 2014 May. PMID 24623722, Free PMC Article

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ38993

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables signaling receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in regulation of AMPA receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in synaptic transmission, glutamatergic IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in vesicle-mediated transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of AMPA glutamate receptor complex ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in ER to Golgi transport vesicle membrane TAS
Traceable Author Statement
more info
  
is_active_in dendrite IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in dendritic shaft ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in endoplasmic reticulum-Golgi intermediate compartment membrane TAS
Traceable Author Statement
more info
  
located_in postsynaptic membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in synapse IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
protein cornichon homolog 3
Names
cornichon homolog 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001322302.2 → NP_001309231.1  protein cornichon homolog 3 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC099790, AL596330
    Conserved Domains (1) summary
    pfam03311
    Location:56 → 179
    Cornichon; Cornichon protein

  2. NM_001322303.2 → NP_001309232.1  protein cornichon homolog 3 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC099790, AL596330
    Conserved Domains (1) summary
    pfam03311
    Location:27 → 157
    Cornichon; Cornichon protein

  3. NM_001322304.2 → NP_001309233.1  protein cornichon homolog 3 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC096537, AC099790, AL596330
    Conserved Domains (1) summary
    pfam03311
    Location:10 → 133
    Cornichon; Cornichon protein

  4. NM_001322305.2 → NP_001309234.1  protein cornichon homolog 3 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC096537, AL596330
    Conserved Domains (1) summary
    pfam03311
    Location:7 → 135
    Cornichon; Cornichon protein

  5. NM_152495.2 → NP_689708.1  protein cornichon homolog 3 isoform 1

    See identical proteins and their annotated locations for NP_689708.1

    Status: VALIDATED

    Source sequence(s)
    AC096537, AK096312, AL596330
    Consensus CDS
    CCDS1544.1
    UniProtKB/Swiss-Prot
    Q8TBE1
    Related
    ENSP00000272133.3, ENST00000272133.4
    Conserved Domains (1) summary
    pfam03311
    Location:7 → 151
    Cornichon; Cornichon protein

RNA

  1. NR_136287.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC096537, AL596330

  2. NR_136288.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC096537, AC099790, AL596330

  3. NR_136289.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC096537, AC099790, AL596330

  4. NR_136290.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC096537, AC099790, AL596330

  5. NR_136291.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC096537, AC099790, AL596330

  6. NR_136292.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC096537, AC099790, AL596330

  7. NR_136293.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC096537, AC099790, AL596330

  8. NR_136294.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC096537, AC099790, AL596330

  9. NR_136295.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC096537, AC099790, AL596330

  10. NR_136296.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC096537, AC099790, AL596330

  11. NR_136297.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC096537, AC099790, AL596330

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    224434640..224740554
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    223623489..223929352
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TBE1.1 GenPept UniProtKB/Swiss-Prot:Q8TBE1

Gene LinkOut

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